autosomal dominant intellectual developmental disorder 69

An autosomal dominant intellectual developmental disorder characterized by developmental delay with variably impaired intellectual development that has_material_basis_in heterozygous mutation in the LMAN2L gene on chromosome 2q11.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Intention tremor
• Intellectual disability
• Delayed speech and language development
• Global developmental delay
• Absent speech
• Attention deficit hyperactivity disorder